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Items: 1 to 20 of 664

1.

rs1489899957 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    19:46756599 (GRCh38)
    19:47259856 (GRCh37)
    Canonical SPDI:
    NC_000019.10:46756598:C:A,NC_000019.10:46756598:C:T
    Gene:
    FKRP (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000111/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    A=0.000035/1 (TOMMO)
    HGVS:
    NC_000019.10:g.46756599C>A, NC_000019.10:g.46756599C>T, NC_000019.9:g.47259856C>A, NC_000019.9:g.47259856C>T, NG_008898.2:g.15554C>A, NG_008898.2:g.15554C>T, NM_024301.5:c.1149C>A, NM_024301.5:c.1149C>T, NM_024301.4:c.1149C>A, NM_024301.4:c.1149C>T, NM_001039885.3:c.1149C>A, NM_001039885.3:c.1149C>T, NM_001039885.2:c.1149C>A, NM_001039885.2:c.1149C>T, XM_005259249.5:c.1149C>A, XM_005259249.5:c.1149C>T, XM_005259249.4:c.1149C>A, XM_005259249.4:c.1149C>T, XM_005259249.3:c.1149C>A, XM_005259249.3:c.1149C>T, XM_005259249.2:c.1149C>A, XM_005259249.2:c.1149C>T, XM_005259249.1:c.1149C>A, XM_005259249.1:c.1149C>T, XM_017027297.3:c.1149C>A, XM_017027297.3:c.1149C>T, XM_017027297.2:c.1149C>A, XM_017027297.2:c.1149C>T, XM_017027297.1:c.1149C>A, XM_017027297.1:c.1149C>T, XM_005259247.3:c.1149C>A, XM_005259247.3:c.1149C>T, XM_005259247.2:c.1149C>A, XM_005259247.2:c.1149C>T, XM_005259247.1:c.1149C>A, XM_005259247.1:c.1149C>T, XM_005259248.3:c.1149C>A, XM_005259248.3:c.1149C>T, XM_005259248.2:c.1149C>A, XM_005259248.2:c.1149C>T, XM_005259248.1:c.1149C>A, XM_005259248.1:c.1149C>T, XM_011527306.3:c.1149C>A, XM_011527306.3:c.1149C>T, XM_011527306.2:c.1149C>A, XM_011527306.2:c.1149C>T, XM_011527306.1:c.1149C>A, XM_011527306.1:c.1149C>T, XM_024451707.2:c.1149C>A, XM_024451707.2:c.1149C>T, XM_024451707.1:c.1149C>A, XM_024451707.1:c.1149C>T, XM_011527307.2:c.1149C>A, XM_011527307.2:c.1149C>T, XM_011527307.1:c.1149C>A, XM_011527307.1:c.1149C>T, XM_047439424.1:c.1149C>A, XM_047439424.1:c.1149C>T, XM_047439425.1:c.1149C>A, XM_047439425.1:c.1149C>T, XM_047439421.1:c.1149C>A, XM_047439421.1:c.1149C>T, XM_047439422.1:c.1149C>A, XM_047439422.1:c.1149C>T, XM_047439427.1:c.1149C>A, XM_047439427.1:c.1149C>T, XM_047439426.1:c.1149C>A, XM_047439426.1:c.1149C>T, XM_047439423.1:c.1149C>A, XM_047439423.1:c.1149C>T, XM_047439428.1:c.1149C>A, XM_047439428.1:c.1149C>T, XM_047439429.1:c.1149C>A, XM_047439429.1:c.1149C>T

    2.

    rs1489840239 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:46756048 (GRCh38)
      19:47259305 (GRCh37)
      Canonical SPDI:
      NC_000019.10:46756047:G:A
      Gene:
      FKRP (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      HGVS:
      NC_000019.10:g.46756048G>A, NC_000019.9:g.47259305G>A, NG_008898.2:g.15003G>A, NM_024301.5:c.598G>A, NM_024301.4:c.598G>A, NM_001039885.3:c.598G>A, NM_001039885.2:c.598G>A, XM_005259249.5:c.598G>A, XM_005259249.4:c.598G>A, XM_005259249.3:c.598G>A, XM_005259249.2:c.598G>A, XM_005259249.1:c.598G>A, XM_017027297.3:c.598G>A, XM_017027297.2:c.598G>A, XM_017027297.1:c.598G>A, XM_005259247.3:c.598G>A, XM_005259247.2:c.598G>A, XM_005259247.1:c.598G>A, XM_005259248.3:c.598G>A, XM_005259248.2:c.598G>A, XM_005259248.1:c.598G>A, XM_011527306.3:c.598G>A, XM_011527306.2:c.598G>A, XM_011527306.1:c.598G>A, XM_024451707.2:c.598G>A, XM_024451707.1:c.598G>A, XM_011527307.2:c.598G>A, XM_011527307.1:c.598G>A, XM_047439424.1:c.598G>A, XM_047439425.1:c.598G>A, XM_047439421.1:c.598G>A, XM_047439422.1:c.598G>A, XM_047439427.1:c.598G>A, XM_047439426.1:c.598G>A, XM_047439423.1:c.598G>A, XM_047439428.1:c.598G>A, XM_047439429.1:c.598G>A, NP_077277.1:p.Val200Met, NP_001034974.1:p.Val200Met, XP_005259306.1:p.Val200Met, XP_016882786.1:p.Val200Met, XP_005259304.1:p.Val200Met, XP_005259305.1:p.Val200Met, XP_011525608.1:p.Val200Met, XP_024307475.1:p.Val200Met, XP_011525609.1:p.Val200Met, XP_047295380.1:p.Val200Met, XP_047295381.1:p.Val200Met, XP_047295377.1:p.Val200Met, XP_047295378.1:p.Val200Met, XP_047295383.1:p.Val200Met, XP_047295382.1:p.Val200Met, XP_047295379.1:p.Val200Met, XP_047295384.1:p.Val200Met, XP_047295385.1:p.Val200Met

      3.

      rs1489408026 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        19:46756001 (GRCh38)
        19:47259258 (GRCh37)
        Canonical SPDI:
        NC_000019.10:46756000:C:G,NC_000019.10:46756000:C:T
        Gene:
        FKRP (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000011/3 (TOPMED)
        HGVS:
        NC_000019.10:g.46756001C>G, NC_000019.10:g.46756001C>T, NC_000019.9:g.47259258C>G, NC_000019.9:g.47259258C>T, NG_008898.2:g.14956C>G, NG_008898.2:g.14956C>T, NM_024301.5:c.551C>G, NM_024301.5:c.551C>T, NM_024301.4:c.551C>G, NM_024301.4:c.551C>T, NM_001039885.3:c.551C>G, NM_001039885.3:c.551C>T, NM_001039885.2:c.551C>G, NM_001039885.2:c.551C>T, XM_005259249.5:c.551C>G, XM_005259249.5:c.551C>T, XM_005259249.4:c.551C>G, XM_005259249.4:c.551C>T, XM_005259249.3:c.551C>G, XM_005259249.3:c.551C>T, XM_005259249.2:c.551C>G, XM_005259249.2:c.551C>T, XM_005259249.1:c.551C>G, XM_005259249.1:c.551C>T, XM_017027297.3:c.551C>G, XM_017027297.3:c.551C>T, XM_017027297.2:c.551C>G, XM_017027297.2:c.551C>T, XM_017027297.1:c.551C>G, XM_017027297.1:c.551C>T, XM_005259247.3:c.551C>G, XM_005259247.3:c.551C>T, XM_005259247.2:c.551C>G, XM_005259247.2:c.551C>T, XM_005259247.1:c.551C>G, XM_005259247.1:c.551C>T, XM_005259248.3:c.551C>G, XM_005259248.3:c.551C>T, XM_005259248.2:c.551C>G, XM_005259248.2:c.551C>T, XM_005259248.1:c.551C>G, XM_005259248.1:c.551C>T, XM_011527306.3:c.551C>G, XM_011527306.3:c.551C>T, XM_011527306.2:c.551C>G, XM_011527306.2:c.551C>T, XM_011527306.1:c.551C>G, XM_011527306.1:c.551C>T, XM_024451707.2:c.551C>G, XM_024451707.2:c.551C>T, XM_024451707.1:c.551C>G, XM_024451707.1:c.551C>T, XM_011527307.2:c.551C>G, XM_011527307.2:c.551C>T, XM_011527307.1:c.551C>G, XM_011527307.1:c.551C>T, XM_047439424.1:c.551C>G, XM_047439424.1:c.551C>T, XM_047439425.1:c.551C>G, XM_047439425.1:c.551C>T, XM_047439421.1:c.551C>G, XM_047439421.1:c.551C>T, XM_047439422.1:c.551C>G, XM_047439422.1:c.551C>T, XM_047439427.1:c.551C>G, XM_047439427.1:c.551C>T, XM_047439426.1:c.551C>G, XM_047439426.1:c.551C>T, XM_047439423.1:c.551C>G, XM_047439423.1:c.551C>T, XM_047439428.1:c.551C>G, XM_047439428.1:c.551C>T, XM_047439429.1:c.551C>G, XM_047439429.1:c.551C>T, NP_077277.1:p.Ala184Gly, NP_077277.1:p.Ala184Val, NP_001034974.1:p.Ala184Gly, NP_001034974.1:p.Ala184Val, XP_005259306.1:p.Ala184Gly, XP_005259306.1:p.Ala184Val, XP_016882786.1:p.Ala184Gly, XP_016882786.1:p.Ala184Val, XP_005259304.1:p.Ala184Gly, XP_005259304.1:p.Ala184Val, XP_005259305.1:p.Ala184Gly, XP_005259305.1:p.Ala184Val, XP_011525608.1:p.Ala184Gly, XP_011525608.1:p.Ala184Val, XP_024307475.1:p.Ala184Gly, XP_024307475.1:p.Ala184Val, XP_011525609.1:p.Ala184Gly, XP_011525609.1:p.Ala184Val, XP_047295380.1:p.Ala184Gly, XP_047295380.1:p.Ala184Val, XP_047295381.1:p.Ala184Gly, XP_047295381.1:p.Ala184Val, XP_047295377.1:p.Ala184Gly, XP_047295377.1:p.Ala184Val, XP_047295378.1:p.Ala184Gly, XP_047295378.1:p.Ala184Val, XP_047295383.1:p.Ala184Gly, XP_047295383.1:p.Ala184Val, XP_047295382.1:p.Ala184Gly, XP_047295382.1:p.Ala184Val, XP_047295379.1:p.Ala184Gly, XP_047295379.1:p.Ala184Val, XP_047295384.1:p.Ala184Gly, XP_047295384.1:p.Ala184Val, XP_047295385.1:p.Ala184Gly, XP_047295385.1:p.Ala184Val

        4.

        rs1488332243 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          19:46756191 (GRCh38)
          19:47259448 (GRCh37)
          Canonical SPDI:
          NC_000019.10:46756190:G:A,NC_000019.10:46756190:G:T
          Gene:
          FKRP (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Clinical significance:
          likely-benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000019.10:g.46756191G>A, NC_000019.10:g.46756191G>T, NC_000019.9:g.47259448G>A, NC_000019.9:g.47259448G>T, NG_008898.2:g.15146G>A, NG_008898.2:g.15146G>T, NM_024301.5:c.741G>A, NM_024301.5:c.741G>T, NM_024301.4:c.741G>A, NM_024301.4:c.741G>T, NM_001039885.3:c.741G>A, NM_001039885.3:c.741G>T, NM_001039885.2:c.741G>A, NM_001039885.2:c.741G>T, XM_005259249.5:c.741G>A, XM_005259249.5:c.741G>T, XM_005259249.4:c.741G>A, XM_005259249.4:c.741G>T, XM_005259249.3:c.741G>A, XM_005259249.3:c.741G>T, XM_005259249.2:c.741G>A, XM_005259249.2:c.741G>T, XM_005259249.1:c.741G>A, XM_005259249.1:c.741G>T, XM_017027297.3:c.741G>A, XM_017027297.3:c.741G>T, XM_017027297.2:c.741G>A, XM_017027297.2:c.741G>T, XM_017027297.1:c.741G>A, XM_017027297.1:c.741G>T, XM_005259247.3:c.741G>A, XM_005259247.3:c.741G>T, XM_005259247.2:c.741G>A, XM_005259247.2:c.741G>T, XM_005259247.1:c.741G>A, XM_005259247.1:c.741G>T, XM_005259248.3:c.741G>A, XM_005259248.3:c.741G>T, XM_005259248.2:c.741G>A, XM_005259248.2:c.741G>T, XM_005259248.1:c.741G>A, XM_005259248.1:c.741G>T, XM_011527306.3:c.741G>A, XM_011527306.3:c.741G>T, XM_011527306.2:c.741G>A, XM_011527306.2:c.741G>T, XM_011527306.1:c.741G>A, XM_011527306.1:c.741G>T, XM_024451707.2:c.741G>A, XM_024451707.2:c.741G>T, XM_024451707.1:c.741G>A, XM_024451707.1:c.741G>T, XM_011527307.2:c.741G>A, XM_011527307.2:c.741G>T, XM_011527307.1:c.741G>A, XM_011527307.1:c.741G>T, XM_047439424.1:c.741G>A, XM_047439424.1:c.741G>T, XM_047439425.1:c.741G>A, XM_047439425.1:c.741G>T, XM_047439421.1:c.741G>A, XM_047439421.1:c.741G>T, XM_047439422.1:c.741G>A, XM_047439422.1:c.741G>T, XM_047439427.1:c.741G>A, XM_047439427.1:c.741G>T, XM_047439426.1:c.741G>A, XM_047439426.1:c.741G>T, XM_047439423.1:c.741G>A, XM_047439423.1:c.741G>T, XM_047439428.1:c.741G>A, XM_047439428.1:c.741G>T, XM_047439429.1:c.741G>A, XM_047439429.1:c.741G>T

          5.

          rs1487436628 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            19:46755471 (GRCh38)
            19:47258728 (GRCh37)
            Canonical SPDI:
            NC_000019.10:46755470:G:T
            Gene:
            FKRP (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            HGVS:
            NC_000019.10:g.46755471G>T, NC_000019.9:g.47258728G>T, NG_008898.2:g.14426G>T, NM_024301.5:c.21G>T, NM_024301.4:c.21G>T, NM_001039885.3:c.21G>T, NM_001039885.2:c.21G>T, XM_005259249.5:c.21G>T, XM_005259249.4:c.21G>T, XM_005259249.3:c.21G>T, XM_005259249.2:c.21G>T, XM_005259249.1:c.21G>T, XM_017027297.3:c.21G>T, XM_017027297.2:c.21G>T, XM_017027297.1:c.21G>T, XM_005259247.3:c.21G>T, XM_005259247.2:c.21G>T, XM_005259247.1:c.21G>T, XM_005259248.3:c.21G>T, XM_005259248.2:c.21G>T, XM_005259248.1:c.21G>T, XM_011527306.3:c.21G>T, XM_011527306.2:c.21G>T, XM_011527306.1:c.21G>T, XM_024451707.2:c.21G>T, XM_024451707.1:c.21G>T, XM_011527307.2:c.21G>T, XM_011527307.1:c.21G>T, XM_047439424.1:c.21G>T, XM_047439425.1:c.21G>T, XM_047439421.1:c.21G>T, XM_047439422.1:c.21G>T, XM_047439427.1:c.21G>T, XM_047439426.1:c.21G>T, XM_047439423.1:c.21G>T, XM_047439428.1:c.21G>T, XM_047439429.1:c.21G>T, NP_077277.1:p.Gln7His, NP_001034974.1:p.Gln7His, XP_005259306.1:p.Gln7His, XP_016882786.1:p.Gln7His, XP_005259304.1:p.Gln7His, XP_005259305.1:p.Gln7His, XP_011525608.1:p.Gln7His, XP_024307475.1:p.Gln7His, XP_011525609.1:p.Gln7His, XP_047295380.1:p.Gln7His, XP_047295381.1:p.Gln7His, XP_047295377.1:p.Gln7His, XP_047295378.1:p.Gln7His, XP_047295383.1:p.Gln7His, XP_047295382.1:p.Gln7His, XP_047295379.1:p.Gln7His, XP_047295384.1:p.Gln7His, XP_047295385.1:p.Gln7His

            6.

            rs1483781400 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              19:46756381 (GRCh38)
              19:47259638 (GRCh37)
              Canonical SPDI:
              NC_000019.10:46756380:G:A,NC_000019.10:46756380:G:T
              Gene:
              FKRP (Varview)
              Functional Consequence:
              stop_gained,missense_variant,coding_sequence_variant
              Clinical significance:
              likely-pathogenic
              HGVS:
              NC_000019.10:g.46756381G>A, NC_000019.10:g.46756381G>T, NC_000019.9:g.47259638G>A, NC_000019.9:g.47259638G>T, NG_008898.2:g.15336G>A, NG_008898.2:g.15336G>T, NM_024301.5:c.931G>A, NM_024301.5:c.931G>T, NM_024301.4:c.931G>A, NM_024301.4:c.931G>T, NM_001039885.3:c.931G>A, NM_001039885.3:c.931G>T, NM_001039885.2:c.931G>A, NM_001039885.2:c.931G>T, XM_005259249.5:c.931G>A, XM_005259249.5:c.931G>T, XM_005259249.4:c.931G>A, XM_005259249.4:c.931G>T, XM_005259249.3:c.931G>A, XM_005259249.3:c.931G>T, XM_005259249.2:c.931G>A, XM_005259249.2:c.931G>T, XM_005259249.1:c.931G>A, XM_005259249.1:c.931G>T, XM_017027297.3:c.931G>A, XM_017027297.3:c.931G>T, XM_017027297.2:c.931G>A, XM_017027297.2:c.931G>T, XM_017027297.1:c.931G>A, XM_017027297.1:c.931G>T, XM_005259247.3:c.931G>A, XM_005259247.3:c.931G>T, XM_005259247.2:c.931G>A, XM_005259247.2:c.931G>T, XM_005259247.1:c.931G>A, XM_005259247.1:c.931G>T, XM_005259248.3:c.931G>A, XM_005259248.3:c.931G>T, XM_005259248.2:c.931G>A, XM_005259248.2:c.931G>T, XM_005259248.1:c.931G>A, XM_005259248.1:c.931G>T, XM_011527306.3:c.931G>A, XM_011527306.3:c.931G>T, XM_011527306.2:c.931G>A, XM_011527306.2:c.931G>T, XM_011527306.1:c.931G>A, XM_011527306.1:c.931G>T, XM_024451707.2:c.931G>A, XM_024451707.2:c.931G>T, XM_024451707.1:c.931G>A, XM_024451707.1:c.931G>T, XM_011527307.2:c.931G>A, XM_011527307.2:c.931G>T, XM_011527307.1:c.931G>A, XM_011527307.1:c.931G>T, XM_047439424.1:c.931G>A, XM_047439424.1:c.931G>T, XM_047439425.1:c.931G>A, XM_047439425.1:c.931G>T, XM_047439421.1:c.931G>A, XM_047439421.1:c.931G>T, XM_047439422.1:c.931G>A, XM_047439422.1:c.931G>T, XM_047439427.1:c.931G>A, XM_047439427.1:c.931G>T, XM_047439426.1:c.931G>A, XM_047439426.1:c.931G>T, XM_047439423.1:c.931G>A, XM_047439423.1:c.931G>T, XM_047439428.1:c.931G>A, XM_047439428.1:c.931G>T, XM_047439429.1:c.931G>A, XM_047439429.1:c.931G>T, NP_077277.1:p.Glu311Lys, NP_077277.1:p.Glu311Ter, NP_001034974.1:p.Glu311Lys, NP_001034974.1:p.Glu311Ter, XP_005259306.1:p.Glu311Lys, XP_005259306.1:p.Glu311Ter, XP_016882786.1:p.Glu311Lys, XP_016882786.1:p.Glu311Ter, XP_005259304.1:p.Glu311Lys, XP_005259304.1:p.Glu311Ter, XP_005259305.1:p.Glu311Lys, XP_005259305.1:p.Glu311Ter, XP_011525608.1:p.Glu311Lys, XP_011525608.1:p.Glu311Ter, XP_024307475.1:p.Glu311Lys, XP_024307475.1:p.Glu311Ter, XP_011525609.1:p.Glu311Lys, XP_011525609.1:p.Glu311Ter, XP_047295380.1:p.Glu311Lys, XP_047295380.1:p.Glu311Ter, XP_047295381.1:p.Glu311Lys, XP_047295381.1:p.Glu311Ter, XP_047295377.1:p.Glu311Lys, XP_047295377.1:p.Glu311Ter, XP_047295378.1:p.Glu311Lys, XP_047295378.1:p.Glu311Ter, XP_047295383.1:p.Glu311Lys, XP_047295383.1:p.Glu311Ter, XP_047295382.1:p.Glu311Lys, XP_047295382.1:p.Glu311Ter, XP_047295379.1:p.Glu311Lys, XP_047295379.1:p.Glu311Ter, XP_047295384.1:p.Glu311Lys, XP_047295384.1:p.Glu311Ter, XP_047295385.1:p.Glu311Lys, XP_047295385.1:p.Glu311Ter

              7.

              rs1482696848 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:46755935 (GRCh38)
                19:47259192 (GRCh37)
                Canonical SPDI:
                NC_000019.10:46755934:C:T
                Gene:
                FKRP (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000016/2 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.46755935C>T, NC_000019.9:g.47259192C>T, NG_008898.2:g.14890C>T, NM_024301.5:c.485C>T, NM_024301.4:c.485C>T, NM_001039885.3:c.485C>T, NM_001039885.2:c.485C>T, XM_005259249.5:c.485C>T, XM_005259249.4:c.485C>T, XM_005259249.3:c.485C>T, XM_005259249.2:c.485C>T, XM_005259249.1:c.485C>T, XM_017027297.3:c.485C>T, XM_017027297.2:c.485C>T, XM_017027297.1:c.485C>T, XM_005259247.3:c.485C>T, XM_005259247.2:c.485C>T, XM_005259247.1:c.485C>T, XM_005259248.3:c.485C>T, XM_005259248.2:c.485C>T, XM_005259248.1:c.485C>T, XM_011527306.3:c.485C>T, XM_011527306.2:c.485C>T, XM_011527306.1:c.485C>T, XM_024451707.2:c.485C>T, XM_024451707.1:c.485C>T, XM_011527307.2:c.485C>T, XM_011527307.1:c.485C>T, XM_047439424.1:c.485C>T, XM_047439425.1:c.485C>T, XM_047439421.1:c.485C>T, XM_047439422.1:c.485C>T, XM_047439427.1:c.485C>T, XM_047439426.1:c.485C>T, XM_047439423.1:c.485C>T, XM_047439428.1:c.485C>T, XM_047439429.1:c.485C>T, NP_077277.1:p.Thr162Met, NP_001034974.1:p.Thr162Met, XP_005259306.1:p.Thr162Met, XP_016882786.1:p.Thr162Met, XP_005259304.1:p.Thr162Met, XP_005259305.1:p.Thr162Met, XP_011525608.1:p.Thr162Met, XP_024307475.1:p.Thr162Met, XP_011525609.1:p.Thr162Met, XP_047295380.1:p.Thr162Met, XP_047295381.1:p.Thr162Met, XP_047295377.1:p.Thr162Met, XP_047295378.1:p.Thr162Met, XP_047295383.1:p.Thr162Met, XP_047295382.1:p.Thr162Met, XP_047295379.1:p.Thr162Met, XP_047295384.1:p.Thr162Met, XP_047295385.1:p.Thr162Met

                8.

                rs1481578790 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  19:46756585 (GRCh38)
                  19:47259842 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:46756584:C:G,NC_000019.10:46756584:C:T
                  Gene:
                  FKRP (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  G=0.000008/2 (TOPMED)
                  T=0.000013/1 (ExAC)
                  HGVS:
                  NC_000019.10:g.46756585C>G, NC_000019.10:g.46756585C>T, NC_000019.9:g.47259842C>G, NC_000019.9:g.47259842C>T, NG_008898.2:g.15540C>G, NG_008898.2:g.15540C>T, NM_024301.5:c.1135C>G, NM_024301.5:c.1135C>T, NM_024301.4:c.1135C>G, NM_024301.4:c.1135C>T, NM_001039885.3:c.1135C>G, NM_001039885.3:c.1135C>T, NM_001039885.2:c.1135C>G, NM_001039885.2:c.1135C>T, XM_005259249.5:c.1135C>G, XM_005259249.5:c.1135C>T, XM_005259249.4:c.1135C>G, XM_005259249.4:c.1135C>T, XM_005259249.3:c.1135C>G, XM_005259249.3:c.1135C>T, XM_005259249.2:c.1135C>G, XM_005259249.2:c.1135C>T, XM_005259249.1:c.1135C>G, XM_005259249.1:c.1135C>T, XM_017027297.3:c.1135C>G, XM_017027297.3:c.1135C>T, XM_017027297.2:c.1135C>G, XM_017027297.2:c.1135C>T, XM_017027297.1:c.1135C>G, XM_017027297.1:c.1135C>T, XM_005259247.3:c.1135C>G, XM_005259247.3:c.1135C>T, XM_005259247.2:c.1135C>G, XM_005259247.2:c.1135C>T, XM_005259247.1:c.1135C>G, XM_005259247.1:c.1135C>T, XM_005259248.3:c.1135C>G, XM_005259248.3:c.1135C>T, XM_005259248.2:c.1135C>G, XM_005259248.2:c.1135C>T, XM_005259248.1:c.1135C>G, XM_005259248.1:c.1135C>T, XM_011527306.3:c.1135C>G, XM_011527306.3:c.1135C>T, XM_011527306.2:c.1135C>G, XM_011527306.2:c.1135C>T, XM_011527306.1:c.1135C>G, XM_011527306.1:c.1135C>T, XM_024451707.2:c.1135C>G, XM_024451707.2:c.1135C>T, XM_024451707.1:c.1135C>G, XM_024451707.1:c.1135C>T, XM_011527307.2:c.1135C>G, XM_011527307.2:c.1135C>T, XM_011527307.1:c.1135C>G, XM_011527307.1:c.1135C>T, XM_047439424.1:c.1135C>G, XM_047439424.1:c.1135C>T, XM_047439425.1:c.1135C>G, XM_047439425.1:c.1135C>T, XM_047439421.1:c.1135C>G, XM_047439421.1:c.1135C>T, XM_047439422.1:c.1135C>G, XM_047439422.1:c.1135C>T, XM_047439427.1:c.1135C>G, XM_047439427.1:c.1135C>T, XM_047439426.1:c.1135C>G, XM_047439426.1:c.1135C>T, XM_047439423.1:c.1135C>G, XM_047439423.1:c.1135C>T, XM_047439428.1:c.1135C>G, XM_047439428.1:c.1135C>T, XM_047439429.1:c.1135C>G, XM_047439429.1:c.1135C>T, NP_077277.1:p.Arg379Gly, NP_077277.1:p.Arg379Trp, NP_001034974.1:p.Arg379Gly, NP_001034974.1:p.Arg379Trp, XP_005259306.1:p.Arg379Gly, XP_005259306.1:p.Arg379Trp, XP_016882786.1:p.Arg379Gly, XP_016882786.1:p.Arg379Trp, XP_005259304.1:p.Arg379Gly, XP_005259304.1:p.Arg379Trp, XP_005259305.1:p.Arg379Gly, XP_005259305.1:p.Arg379Trp, XP_011525608.1:p.Arg379Gly, XP_011525608.1:p.Arg379Trp, XP_024307475.1:p.Arg379Gly, XP_024307475.1:p.Arg379Trp, XP_011525609.1:p.Arg379Gly, XP_011525609.1:p.Arg379Trp, XP_047295380.1:p.Arg379Gly, XP_047295380.1:p.Arg379Trp, XP_047295381.1:p.Arg379Gly, XP_047295381.1:p.Arg379Trp, XP_047295377.1:p.Arg379Gly, XP_047295377.1:p.Arg379Trp, XP_047295378.1:p.Arg379Gly, XP_047295378.1:p.Arg379Trp, XP_047295383.1:p.Arg379Gly, XP_047295383.1:p.Arg379Trp, XP_047295382.1:p.Arg379Gly, XP_047295382.1:p.Arg379Trp, XP_047295379.1:p.Arg379Gly, XP_047295379.1:p.Arg379Trp, XP_047295384.1:p.Arg379Gly, XP_047295384.1:p.Arg379Trp, XP_047295385.1:p.Arg379Gly, XP_047295385.1:p.Arg379Trp

                  9.

                  rs1480545874 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:46756822 (GRCh38)
                    19:47260079 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:46756821:G:A
                    Gene:
                    FKRP (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000009/2 (GnomAD_exomes)
                    HGVS:
                    NC_000019.10:g.46756822G>A, NC_000019.9:g.47260079G>A, NG_008898.2:g.15777G>A, NM_024301.5:c.1372G>A, NM_024301.4:c.1372G>A, NM_001039885.3:c.1372G>A, NM_001039885.2:c.1372G>A, XM_005259249.5:c.1372G>A, XM_005259249.4:c.1372G>A, XM_005259249.3:c.1372G>A, XM_005259249.2:c.1372G>A, XM_005259249.1:c.1372G>A, XM_017027297.3:c.1372G>A, XM_017027297.2:c.1372G>A, XM_017027297.1:c.1372G>A, XM_005259247.3:c.1372G>A, XM_005259247.2:c.1372G>A, XM_005259247.1:c.1372G>A, XM_005259248.3:c.1372G>A, XM_005259248.2:c.1372G>A, XM_005259248.1:c.1372G>A, XM_011527306.3:c.1372G>A, XM_011527306.2:c.1372G>A, XM_011527306.1:c.1372G>A, XM_024451707.2:c.1372G>A, XM_024451707.1:c.1372G>A, XM_011527307.2:c.1372G>A, XM_011527307.1:c.1372G>A, XM_047439424.1:c.1372G>A, XM_047439425.1:c.1372G>A, XM_047439421.1:c.1372G>A, XM_047439422.1:c.1372G>A, XM_047439427.1:c.1372G>A, XM_047439426.1:c.1372G>A, XM_047439423.1:c.1372G>A, XM_047439428.1:c.1372G>A, XM_047439429.1:c.1372G>A, NP_077277.1:p.Val458Met, NP_001034974.1:p.Val458Met, XP_005259306.1:p.Val458Met, XP_016882786.1:p.Val458Met, XP_005259304.1:p.Val458Met, XP_005259305.1:p.Val458Met, XP_011525608.1:p.Val458Met, XP_024307475.1:p.Val458Met, XP_011525609.1:p.Val458Met, XP_047295380.1:p.Val458Met, XP_047295381.1:p.Val458Met, XP_047295377.1:p.Val458Met, XP_047295378.1:p.Val458Met, XP_047295383.1:p.Val458Met, XP_047295382.1:p.Val458Met, XP_047295379.1:p.Val458Met, XP_047295384.1:p.Val458Met, XP_047295385.1:p.Val458Met

                    10.

                    rs1479437011 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:46756425 (GRCh38)
                      19:47259682 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:46756424:C:T
                      Gene:
                      FKRP (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Clinical significance:
                      likely-benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000005/1 (GnomAD_exomes)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000019.10:g.46756425C>T, NC_000019.9:g.47259682C>T, NG_008898.2:g.15380C>T, NM_024301.5:c.975C>T, NM_024301.4:c.975C>T, NM_001039885.3:c.975C>T, NM_001039885.2:c.975C>T, XM_005259249.5:c.975C>T, XM_005259249.4:c.975C>T, XM_005259249.3:c.975C>T, XM_005259249.2:c.975C>T, XM_005259249.1:c.975C>T, XM_017027297.3:c.975C>T, XM_017027297.2:c.975C>T, XM_017027297.1:c.975C>T, XM_005259247.3:c.975C>T, XM_005259247.2:c.975C>T, XM_005259247.1:c.975C>T, XM_005259248.3:c.975C>T, XM_005259248.2:c.975C>T, XM_005259248.1:c.975C>T, XM_011527306.3:c.975C>T, XM_011527306.2:c.975C>T, XM_011527306.1:c.975C>T, XM_024451707.2:c.975C>T, XM_024451707.1:c.975C>T, XM_011527307.2:c.975C>T, XM_011527307.1:c.975C>T, XM_047439424.1:c.975C>T, XM_047439425.1:c.975C>T, XM_047439421.1:c.975C>T, XM_047439422.1:c.975C>T, XM_047439427.1:c.975C>T, XM_047439426.1:c.975C>T, XM_047439423.1:c.975C>T, XM_047439428.1:c.975C>T, XM_047439429.1:c.975C>T

                      11.

                      rs1477990880 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:46755700 (GRCh38)
                        19:47258957 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:46755699:G:A
                        Gene:
                        FKRP (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        HGVS:
                        NC_000019.10:g.46755700G>A, NC_000019.9:g.47258957G>A, NG_008898.2:g.14655G>A, NM_024301.5:c.250G>A, NM_024301.4:c.250G>A, NM_001039885.3:c.250G>A, NM_001039885.2:c.250G>A, XM_005259249.5:c.250G>A, XM_005259249.4:c.250G>A, XM_005259249.3:c.250G>A, XM_005259249.2:c.250G>A, XM_005259249.1:c.250G>A, XM_017027297.3:c.250G>A, XM_017027297.2:c.250G>A, XM_017027297.1:c.250G>A, XM_005259247.3:c.250G>A, XM_005259247.2:c.250G>A, XM_005259247.1:c.250G>A, XM_005259248.3:c.250G>A, XM_005259248.2:c.250G>A, XM_005259248.1:c.250G>A, XM_011527306.3:c.250G>A, XM_011527306.2:c.250G>A, XM_011527306.1:c.250G>A, XM_024451707.2:c.250G>A, XM_024451707.1:c.250G>A, XM_011527307.2:c.250G>A, XM_011527307.1:c.250G>A, XM_047439424.1:c.250G>A, XM_047439425.1:c.250G>A, XM_047439421.1:c.250G>A, XM_047439422.1:c.250G>A, XM_047439427.1:c.250G>A, XM_047439426.1:c.250G>A, XM_047439423.1:c.250G>A, XM_047439428.1:c.250G>A, XM_047439429.1:c.250G>A, NP_077277.1:p.Asp84Asn, NP_001034974.1:p.Asp84Asn, XP_005259306.1:p.Asp84Asn, XP_016882786.1:p.Asp84Asn, XP_005259304.1:p.Asp84Asn, XP_005259305.1:p.Asp84Asn, XP_011525608.1:p.Asp84Asn, XP_024307475.1:p.Asp84Asn, XP_011525609.1:p.Asp84Asn, XP_047295380.1:p.Asp84Asn, XP_047295381.1:p.Asp84Asn, XP_047295377.1:p.Asp84Asn, XP_047295378.1:p.Asp84Asn, XP_047295383.1:p.Asp84Asn, XP_047295382.1:p.Asp84Asn, XP_047295379.1:p.Asp84Asn, XP_047295384.1:p.Asp84Asn, XP_047295385.1:p.Asp84Asn

                        12.

                        rs1474726988 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          19:46756215 (GRCh38)
                          19:47259472 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:46756214:G:T
                          Gene:
                          FKRP (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000019.10:g.46756215G>T, NC_000019.9:g.47259472G>T, NG_008898.2:g.15170G>T, NM_024301.5:c.765G>T, NM_024301.4:c.765G>T, NM_001039885.3:c.765G>T, NM_001039885.2:c.765G>T, XM_005259249.5:c.765G>T, XM_005259249.4:c.765G>T, XM_005259249.3:c.765G>T, XM_005259249.2:c.765G>T, XM_005259249.1:c.765G>T, XM_017027297.3:c.765G>T, XM_017027297.2:c.765G>T, XM_017027297.1:c.765G>T, XM_005259247.3:c.765G>T, XM_005259247.2:c.765G>T, XM_005259247.1:c.765G>T, XM_005259248.3:c.765G>T, XM_005259248.2:c.765G>T, XM_005259248.1:c.765G>T, XM_011527306.3:c.765G>T, XM_011527306.2:c.765G>T, XM_011527306.1:c.765G>T, XM_024451707.2:c.765G>T, XM_024451707.1:c.765G>T, XM_011527307.2:c.765G>T, XM_011527307.1:c.765G>T, XM_047439424.1:c.765G>T, XM_047439425.1:c.765G>T, XM_047439421.1:c.765G>T, XM_047439422.1:c.765G>T, XM_047439427.1:c.765G>T, XM_047439426.1:c.765G>T, XM_047439423.1:c.765G>T, XM_047439428.1:c.765G>T, XM_047439429.1:c.765G>T, NP_077277.1:p.Trp255Cys, NP_001034974.1:p.Trp255Cys, XP_005259306.1:p.Trp255Cys, XP_016882786.1:p.Trp255Cys, XP_005259304.1:p.Trp255Cys, XP_005259305.1:p.Trp255Cys, XP_011525608.1:p.Trp255Cys, XP_024307475.1:p.Trp255Cys, XP_011525609.1:p.Trp255Cys, XP_047295380.1:p.Trp255Cys, XP_047295381.1:p.Trp255Cys, XP_047295377.1:p.Trp255Cys, XP_047295378.1:p.Trp255Cys, XP_047295383.1:p.Trp255Cys, XP_047295382.1:p.Trp255Cys, XP_047295379.1:p.Trp255Cys, XP_047295384.1:p.Trp255Cys, XP_047295385.1:p.Trp255Cys

                          13.

                          rs1473348553 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G,T [Show Flanks]
                            Chromosome:
                            19:46756341 (GRCh38)
                            19:47259598 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:46756340:C:A,NC_000019.10:46756340:C:G,NC_000019.10:46756340:C:T
                            Gene:
                            FKRP (Varview)
                            Functional Consequence:
                            synonymous_variant,missense_variant,coding_sequence_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.000006/1 (GnomAD_exomes)
                            HGVS:
                            NC_000019.10:g.46756341C>A, NC_000019.10:g.46756341C>G, NC_000019.10:g.46756341C>T, NC_000019.9:g.47259598C>A, NC_000019.9:g.47259598C>G, NC_000019.9:g.47259598C>T, NG_008898.2:g.15296C>A, NG_008898.2:g.15296C>G, NG_008898.2:g.15296C>T, NM_024301.5:c.891C>A, NM_024301.5:c.891C>G, NM_024301.5:c.891C>T, NM_024301.4:c.891C>A, NM_024301.4:c.891C>G, NM_024301.4:c.891C>T, NM_001039885.3:c.891C>A, NM_001039885.3:c.891C>G, NM_001039885.3:c.891C>T, NM_001039885.2:c.891C>A, NM_001039885.2:c.891C>G, NM_001039885.2:c.891C>T, XM_005259249.5:c.891C>A, XM_005259249.5:c.891C>G, XM_005259249.5:c.891C>T, XM_005259249.4:c.891C>A, XM_005259249.4:c.891C>G, XM_005259249.4:c.891C>T, XM_005259249.3:c.891C>A, XM_005259249.3:c.891C>G, XM_005259249.3:c.891C>T, XM_005259249.2:c.891C>A, XM_005259249.2:c.891C>G, XM_005259249.2:c.891C>T, XM_005259249.1:c.891C>A, XM_005259249.1:c.891C>G, XM_005259249.1:c.891C>T, XM_017027297.3:c.891C>A, XM_017027297.3:c.891C>G, XM_017027297.3:c.891C>T, XM_017027297.2:c.891C>A, XM_017027297.2:c.891C>G, XM_017027297.2:c.891C>T, XM_017027297.1:c.891C>A, XM_017027297.1:c.891C>G, XM_017027297.1:c.891C>T, XM_005259247.3:c.891C>A, XM_005259247.3:c.891C>G, XM_005259247.3:c.891C>T, XM_005259247.2:c.891C>A, XM_005259247.2:c.891C>G, XM_005259247.2:c.891C>T, XM_005259247.1:c.891C>A, XM_005259247.1:c.891C>G, XM_005259247.1:c.891C>T, XM_005259248.3:c.891C>A, XM_005259248.3:c.891C>G, XM_005259248.3:c.891C>T, XM_005259248.2:c.891C>A, XM_005259248.2:c.891C>G, XM_005259248.2:c.891C>T, XM_005259248.1:c.891C>A, XM_005259248.1:c.891C>G, XM_005259248.1:c.891C>T, XM_011527306.3:c.891C>A, XM_011527306.3:c.891C>G, XM_011527306.3:c.891C>T, XM_011527306.2:c.891C>A, XM_011527306.2:c.891C>G, XM_011527306.2:c.891C>T, XM_011527306.1:c.891C>A, XM_011527306.1:c.891C>G, XM_011527306.1:c.891C>T, XM_024451707.2:c.891C>A, XM_024451707.2:c.891C>G, XM_024451707.2:c.891C>T, XM_024451707.1:c.891C>A, XM_024451707.1:c.891C>G, XM_024451707.1:c.891C>T, XM_011527307.2:c.891C>A, XM_011527307.2:c.891C>G, XM_011527307.2:c.891C>T, XM_011527307.1:c.891C>A, XM_011527307.1:c.891C>G, XM_011527307.1:c.891C>T, XM_047439424.1:c.891C>A, XM_047439424.1:c.891C>G, XM_047439424.1:c.891C>T, XM_047439425.1:c.891C>A, XM_047439425.1:c.891C>G, XM_047439425.1:c.891C>T, XM_047439421.1:c.891C>A, XM_047439421.1:c.891C>G, XM_047439421.1:c.891C>T, XM_047439422.1:c.891C>A, XM_047439422.1:c.891C>G, XM_047439422.1:c.891C>T, XM_047439427.1:c.891C>A, XM_047439427.1:c.891C>G, XM_047439427.1:c.891C>T, XM_047439426.1:c.891C>A, XM_047439426.1:c.891C>G, XM_047439426.1:c.891C>T, XM_047439423.1:c.891C>A, XM_047439423.1:c.891C>G, XM_047439423.1:c.891C>T, XM_047439428.1:c.891C>A, XM_047439428.1:c.891C>G, XM_047439428.1:c.891C>T, XM_047439429.1:c.891C>A, XM_047439429.1:c.891C>G, XM_047439429.1:c.891C>T, NP_077277.1:p.Phe297Leu, NP_077277.1:p.Phe297Leu, NP_001034974.1:p.Phe297Leu, NP_001034974.1:p.Phe297Leu, XP_005259306.1:p.Phe297Leu, XP_005259306.1:p.Phe297Leu, XP_016882786.1:p.Phe297Leu, XP_016882786.1:p.Phe297Leu, XP_005259304.1:p.Phe297Leu, XP_005259304.1:p.Phe297Leu, XP_005259305.1:p.Phe297Leu, XP_005259305.1:p.Phe297Leu, XP_011525608.1:p.Phe297Leu, XP_011525608.1:p.Phe297Leu, XP_024307475.1:p.Phe297Leu, XP_024307475.1:p.Phe297Leu, XP_011525609.1:p.Phe297Leu, XP_011525609.1:p.Phe297Leu, XP_047295380.1:p.Phe297Leu, XP_047295380.1:p.Phe297Leu, XP_047295381.1:p.Phe297Leu, XP_047295381.1:p.Phe297Leu, XP_047295377.1:p.Phe297Leu, XP_047295377.1:p.Phe297Leu, XP_047295378.1:p.Phe297Leu, XP_047295378.1:p.Phe297Leu, XP_047295383.1:p.Phe297Leu, XP_047295383.1:p.Phe297Leu, XP_047295382.1:p.Phe297Leu, XP_047295382.1:p.Phe297Leu, XP_047295379.1:p.Phe297Leu, XP_047295379.1:p.Phe297Leu, XP_047295384.1:p.Phe297Leu, XP_047295384.1:p.Phe297Leu, XP_047295385.1:p.Phe297Leu, XP_047295385.1:p.Phe297Leu

                            14.

                            rs1473327480 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              19:46755755 (GRCh38)
                              19:47259012 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:46755754:C:A,NC_000019.10:46755754:C:T
                              Gene:
                              FKRP (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000019.10:g.46755755C>A, NC_000019.10:g.46755755C>T, NC_000019.9:g.47259012C>A, NC_000019.9:g.47259012C>T, NG_008898.2:g.14710C>A, NG_008898.2:g.14710C>T, NM_024301.5:c.305C>A, NM_024301.5:c.305C>T, NM_024301.4:c.305C>A, NM_024301.4:c.305C>T, NM_001039885.3:c.305C>A, NM_001039885.3:c.305C>T, NM_001039885.2:c.305C>A, NM_001039885.2:c.305C>T, XM_005259249.5:c.305C>A, XM_005259249.5:c.305C>T, XM_005259249.4:c.305C>A, XM_005259249.4:c.305C>T, XM_005259249.3:c.305C>A, XM_005259249.3:c.305C>T, XM_005259249.2:c.305C>A, XM_005259249.2:c.305C>T, XM_005259249.1:c.305C>A, XM_005259249.1:c.305C>T, XM_017027297.3:c.305C>A, XM_017027297.3:c.305C>T, XM_017027297.2:c.305C>A, XM_017027297.2:c.305C>T, XM_017027297.1:c.305C>A, XM_017027297.1:c.305C>T, XM_005259247.3:c.305C>A, XM_005259247.3:c.305C>T, XM_005259247.2:c.305C>A, XM_005259247.2:c.305C>T, XM_005259247.1:c.305C>A, XM_005259247.1:c.305C>T, XM_005259248.3:c.305C>A, XM_005259248.3:c.305C>T, XM_005259248.2:c.305C>A, XM_005259248.2:c.305C>T, XM_005259248.1:c.305C>A, XM_005259248.1:c.305C>T, XM_011527306.3:c.305C>A, XM_011527306.3:c.305C>T, XM_011527306.2:c.305C>A, XM_011527306.2:c.305C>T, XM_011527306.1:c.305C>A, XM_011527306.1:c.305C>T, XM_024451707.2:c.305C>A, XM_024451707.2:c.305C>T, XM_024451707.1:c.305C>A, XM_024451707.1:c.305C>T, XM_011527307.2:c.305C>A, XM_011527307.2:c.305C>T, XM_011527307.1:c.305C>A, XM_011527307.1:c.305C>T, XM_047439424.1:c.305C>A, XM_047439424.1:c.305C>T, XM_047439425.1:c.305C>A, XM_047439425.1:c.305C>T, XM_047439421.1:c.305C>A, XM_047439421.1:c.305C>T, XM_047439422.1:c.305C>A, XM_047439422.1:c.305C>T, XM_047439427.1:c.305C>A, XM_047439427.1:c.305C>T, XM_047439426.1:c.305C>A, XM_047439426.1:c.305C>T, XM_047439423.1:c.305C>A, XM_047439423.1:c.305C>T, XM_047439428.1:c.305C>A, XM_047439428.1:c.305C>T, XM_047439429.1:c.305C>A, XM_047439429.1:c.305C>T, NP_077277.1:p.Ala102Glu, NP_077277.1:p.Ala102Val, NP_001034974.1:p.Ala102Glu, NP_001034974.1:p.Ala102Val, XP_005259306.1:p.Ala102Glu, XP_005259306.1:p.Ala102Val, XP_016882786.1:p.Ala102Glu, XP_016882786.1:p.Ala102Val, XP_005259304.1:p.Ala102Glu, XP_005259304.1:p.Ala102Val, XP_005259305.1:p.Ala102Glu, XP_005259305.1:p.Ala102Val, XP_011525608.1:p.Ala102Glu, XP_011525608.1:p.Ala102Val, XP_024307475.1:p.Ala102Glu, XP_024307475.1:p.Ala102Val, XP_011525609.1:p.Ala102Glu, XP_011525609.1:p.Ala102Val, XP_047295380.1:p.Ala102Glu, XP_047295380.1:p.Ala102Val, XP_047295381.1:p.Ala102Glu, XP_047295381.1:p.Ala102Val, XP_047295377.1:p.Ala102Glu, XP_047295377.1:p.Ala102Val, XP_047295378.1:p.Ala102Glu, XP_047295378.1:p.Ala102Val, XP_047295383.1:p.Ala102Glu, XP_047295383.1:p.Ala102Val, XP_047295382.1:p.Ala102Glu, XP_047295382.1:p.Ala102Val, XP_047295379.1:p.Ala102Glu, XP_047295379.1:p.Ala102Val, XP_047295384.1:p.Ala102Glu, XP_047295384.1:p.Ala102Val, XP_047295385.1:p.Ala102Glu, XP_047295385.1:p.Ala102Val

                              15.

                              rs1473222153 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                19:46755534 (GRCh38)
                                19:47258791 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:46755533:G:T
                                Gene:
                                FKRP (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000047/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000019.10:g.46755534G>T, NC_000019.9:g.47258791G>T, NG_008898.2:g.14489G>T, NM_024301.5:c.84G>T, NM_024301.4:c.84G>T, NM_001039885.3:c.84G>T, NM_001039885.2:c.84G>T, XM_005259249.5:c.84G>T, XM_005259249.4:c.84G>T, XM_005259249.3:c.84G>T, XM_005259249.2:c.84G>T, XM_005259249.1:c.84G>T, XM_017027297.3:c.84G>T, XM_017027297.2:c.84G>T, XM_017027297.1:c.84G>T, XM_005259247.3:c.84G>T, XM_005259247.2:c.84G>T, XM_005259247.1:c.84G>T, XM_005259248.3:c.84G>T, XM_005259248.2:c.84G>T, XM_005259248.1:c.84G>T, XM_011527306.3:c.84G>T, XM_011527306.2:c.84G>T, XM_011527306.1:c.84G>T, XM_024451707.2:c.84G>T, XM_024451707.1:c.84G>T, XM_011527307.2:c.84G>T, XM_011527307.1:c.84G>T, XM_047439424.1:c.84G>T, XM_047439425.1:c.84G>T, XM_047439421.1:c.84G>T, XM_047439422.1:c.84G>T, XM_047439427.1:c.84G>T, XM_047439426.1:c.84G>T, XM_047439423.1:c.84G>T, XM_047439428.1:c.84G>T, XM_047439429.1:c.84G>T, NP_077277.1:p.Gln28His, NP_001034974.1:p.Gln28His, XP_005259306.1:p.Gln28His, XP_016882786.1:p.Gln28His, XP_005259304.1:p.Gln28His, XP_005259305.1:p.Gln28His, XP_011525608.1:p.Gln28His, XP_024307475.1:p.Gln28His, XP_011525609.1:p.Gln28His, XP_047295380.1:p.Gln28His, XP_047295381.1:p.Gln28His, XP_047295377.1:p.Gln28His, XP_047295378.1:p.Gln28His, XP_047295383.1:p.Gln28His, XP_047295382.1:p.Gln28His, XP_047295379.1:p.Gln28His, XP_047295384.1:p.Gln28His, XP_047295385.1:p.Gln28His

                                16.

                                rs1471167981 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:46756642 (GRCh38)
                                  19:47259899 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:46756641:G:A
                                  Gene:
                                  FKRP (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.46756642G>A, NC_000019.9:g.47259899G>A, NG_008898.2:g.15597G>A, NM_024301.5:c.1192G>A, NM_024301.4:c.1192G>A, NM_001039885.3:c.1192G>A, NM_001039885.2:c.1192G>A, XM_005259249.5:c.1192G>A, XM_005259249.4:c.1192G>A, XM_005259249.3:c.1192G>A, XM_005259249.2:c.1192G>A, XM_005259249.1:c.1192G>A, XM_017027297.3:c.1192G>A, XM_017027297.2:c.1192G>A, XM_017027297.1:c.1192G>A, XM_005259247.3:c.1192G>A, XM_005259247.2:c.1192G>A, XM_005259247.1:c.1192G>A, XM_005259248.3:c.1192G>A, XM_005259248.2:c.1192G>A, XM_005259248.1:c.1192G>A, XM_011527306.3:c.1192G>A, XM_011527306.2:c.1192G>A, XM_011527306.1:c.1192G>A, XM_024451707.2:c.1192G>A, XM_024451707.1:c.1192G>A, XM_011527307.2:c.1192G>A, XM_011527307.1:c.1192G>A, XM_047439424.1:c.1192G>A, XM_047439425.1:c.1192G>A, XM_047439421.1:c.1192G>A, XM_047439422.1:c.1192G>A, XM_047439427.1:c.1192G>A, XM_047439426.1:c.1192G>A, XM_047439423.1:c.1192G>A, XM_047439428.1:c.1192G>A, XM_047439429.1:c.1192G>A, NP_077277.1:p.Val398Ile, NP_001034974.1:p.Val398Ile, XP_005259306.1:p.Val398Ile, XP_016882786.1:p.Val398Ile, XP_005259304.1:p.Val398Ile, XP_005259305.1:p.Val398Ile, XP_011525608.1:p.Val398Ile, XP_024307475.1:p.Val398Ile, XP_011525609.1:p.Val398Ile, XP_047295380.1:p.Val398Ile, XP_047295381.1:p.Val398Ile, XP_047295377.1:p.Val398Ile, XP_047295378.1:p.Val398Ile, XP_047295383.1:p.Val398Ile, XP_047295382.1:p.Val398Ile, XP_047295379.1:p.Val398Ile, XP_047295384.1:p.Val398Ile, XP_047295385.1:p.Val398Ile

                                  17.

                                  rs1468526055 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:46756874 (GRCh38)
                                    19:47260131 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:46756873:C:T
                                    Gene:
                                    FKRP (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Clinical significance:
                                    uncertain-significance
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000019.10:g.46756874C>T, NC_000019.9:g.47260131C>T, NG_008898.2:g.15829C>T, NM_024301.5:c.1424C>T, NM_024301.4:c.1424C>T, NM_001039885.3:c.1424C>T, NM_001039885.2:c.1424C>T, XM_005259249.5:c.1424C>T, XM_005259249.4:c.1424C>T, XM_005259249.3:c.1424C>T, XM_005259249.2:c.1424C>T, XM_005259249.1:c.1424C>T, XM_017027297.3:c.1424C>T, XM_017027297.2:c.1424C>T, XM_017027297.1:c.1424C>T, XM_005259247.3:c.1424C>T, XM_005259247.2:c.1424C>T, XM_005259247.1:c.1424C>T, XM_005259248.3:c.1424C>T, XM_005259248.2:c.1424C>T, XM_005259248.1:c.1424C>T, XM_011527306.3:c.1424C>T, XM_011527306.2:c.1424C>T, XM_011527306.1:c.1424C>T, XM_024451707.2:c.1424C>T, XM_024451707.1:c.1424C>T, XM_011527307.2:c.1424C>T, XM_011527307.1:c.1424C>T, XM_047439424.1:c.1424C>T, XM_047439425.1:c.1424C>T, XM_047439421.1:c.1424C>T, XM_047439422.1:c.1424C>T, XM_047439427.1:c.1424C>T, XM_047439426.1:c.1424C>T, XM_047439423.1:c.1424C>T, XM_047439428.1:c.1424C>T, XM_047439429.1:c.1424C>T, NP_077277.1:p.Pro475Leu, NP_001034974.1:p.Pro475Leu, XP_005259306.1:p.Pro475Leu, XP_016882786.1:p.Pro475Leu, XP_005259304.1:p.Pro475Leu, XP_005259305.1:p.Pro475Leu, XP_011525608.1:p.Pro475Leu, XP_024307475.1:p.Pro475Leu, XP_011525609.1:p.Pro475Leu, XP_047295380.1:p.Pro475Leu, XP_047295381.1:p.Pro475Leu, XP_047295377.1:p.Pro475Leu, XP_047295378.1:p.Pro475Leu, XP_047295383.1:p.Pro475Leu, XP_047295382.1:p.Pro475Leu, XP_047295379.1:p.Pro475Leu, XP_047295384.1:p.Pro475Leu, XP_047295385.1:p.Pro475Leu

                                    18.

                                    rs1468465064 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:46756507 (GRCh38)
                                      19:47259764 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:46756506:C:T
                                      Gene:
                                      FKRP (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000005/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000019.10:g.46756507C>T, NC_000019.9:g.47259764C>T, NG_008898.2:g.15462C>T, NM_024301.5:c.1057C>T, NM_024301.4:c.1057C>T, NM_001039885.3:c.1057C>T, NM_001039885.2:c.1057C>T, XM_005259249.5:c.1057C>T, XM_005259249.4:c.1057C>T, XM_005259249.3:c.1057C>T, XM_005259249.2:c.1057C>T, XM_005259249.1:c.1057C>T, XM_017027297.3:c.1057C>T, XM_017027297.2:c.1057C>T, XM_017027297.1:c.1057C>T, XM_005259247.3:c.1057C>T, XM_005259247.2:c.1057C>T, XM_005259247.1:c.1057C>T, XM_005259248.3:c.1057C>T, XM_005259248.2:c.1057C>T, XM_005259248.1:c.1057C>T, XM_011527306.3:c.1057C>T, XM_011527306.2:c.1057C>T, XM_011527306.1:c.1057C>T, XM_024451707.2:c.1057C>T, XM_024451707.1:c.1057C>T, XM_011527307.2:c.1057C>T, XM_011527307.1:c.1057C>T, XM_047439424.1:c.1057C>T, XM_047439425.1:c.1057C>T, XM_047439421.1:c.1057C>T, XM_047439422.1:c.1057C>T, XM_047439427.1:c.1057C>T, XM_047439426.1:c.1057C>T, XM_047439423.1:c.1057C>T, XM_047439428.1:c.1057C>T, XM_047439429.1:c.1057C>T, NP_077277.1:p.His353Tyr, NP_001034974.1:p.His353Tyr, XP_005259306.1:p.His353Tyr, XP_016882786.1:p.His353Tyr, XP_005259304.1:p.His353Tyr, XP_005259305.1:p.His353Tyr, XP_011525608.1:p.His353Tyr, XP_024307475.1:p.His353Tyr, XP_011525609.1:p.His353Tyr, XP_047295380.1:p.His353Tyr, XP_047295381.1:p.His353Tyr, XP_047295377.1:p.His353Tyr, XP_047295378.1:p.His353Tyr, XP_047295383.1:p.His353Tyr, XP_047295382.1:p.His353Tyr, XP_047295379.1:p.His353Tyr, XP_047295384.1:p.His353Tyr, XP_047295385.1:p.His353Tyr

                                      19.

                                      rs1466623624 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:46756743 (GRCh38)
                                        19:47260000 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:46756742:G:A
                                        Gene:
                                        FKRP (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by cluster
                                        HGVS:
                                        NC_000019.10:g.46756743G>A, NC_000019.9:g.47260000G>A, NG_008898.2:g.15698G>A, NM_024301.5:c.1293G>A, NM_024301.4:c.1293G>A, NM_001039885.3:c.1293G>A, NM_001039885.2:c.1293G>A, XM_005259249.5:c.1293G>A, XM_005259249.4:c.1293G>A, XM_005259249.3:c.1293G>A, XM_005259249.2:c.1293G>A, XM_005259249.1:c.1293G>A, XM_017027297.3:c.1293G>A, XM_017027297.2:c.1293G>A, XM_017027297.1:c.1293G>A, XM_005259247.3:c.1293G>A, XM_005259247.2:c.1293G>A, XM_005259247.1:c.1293G>A, XM_005259248.3:c.1293G>A, XM_005259248.2:c.1293G>A, XM_005259248.1:c.1293G>A, XM_011527306.3:c.1293G>A, XM_011527306.2:c.1293G>A, XM_011527306.1:c.1293G>A, XM_024451707.2:c.1293G>A, XM_024451707.1:c.1293G>A, XM_011527307.2:c.1293G>A, XM_011527307.1:c.1293G>A, XM_047439424.1:c.1293G>A, XM_047439425.1:c.1293G>A, XM_047439421.1:c.1293G>A, XM_047439422.1:c.1293G>A, XM_047439427.1:c.1293G>A, XM_047439426.1:c.1293G>A, XM_047439423.1:c.1293G>A, XM_047439428.1:c.1293G>A, XM_047439429.1:c.1293G>A

                                        20.

                                        rs1465811690 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          19:46756409 (GRCh38)
                                          19:47259666 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:46756408:G:A
                                          Gene:
                                          FKRP (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000035/1 (TOMMO)
                                          HGVS:
                                          NC_000019.10:g.46756409G>A, NC_000019.9:g.47259666G>A, NG_008898.2:g.15364G>A, NM_024301.5:c.959G>A, NM_024301.4:c.959G>A, NM_001039885.3:c.959G>A, NM_001039885.2:c.959G>A, XM_005259249.5:c.959G>A, XM_005259249.4:c.959G>A, XM_005259249.3:c.959G>A, XM_005259249.2:c.959G>A, XM_005259249.1:c.959G>A, XM_017027297.3:c.959G>A, XM_017027297.2:c.959G>A, XM_017027297.1:c.959G>A, XM_005259247.3:c.959G>A, XM_005259247.2:c.959G>A, XM_005259247.1:c.959G>A, XM_005259248.3:c.959G>A, XM_005259248.2:c.959G>A, XM_005259248.1:c.959G>A, XM_011527306.3:c.959G>A, XM_011527306.2:c.959G>A, XM_011527306.1:c.959G>A, XM_024451707.2:c.959G>A, XM_024451707.1:c.959G>A, XM_011527307.2:c.959G>A, XM_011527307.1:c.959G>A, XM_047439424.1:c.959G>A, XM_047439425.1:c.959G>A, XM_047439421.1:c.959G>A, XM_047439422.1:c.959G>A, XM_047439427.1:c.959G>A, XM_047439426.1:c.959G>A, XM_047439423.1:c.959G>A, XM_047439428.1:c.959G>A, XM_047439429.1:c.959G>A, NP_077277.1:p.Arg320His, NP_001034974.1:p.Arg320His, XP_005259306.1:p.Arg320His, XP_016882786.1:p.Arg320His, XP_005259304.1:p.Arg320His, XP_005259305.1:p.Arg320His, XP_011525608.1:p.Arg320His, XP_024307475.1:p.Arg320His, XP_011525609.1:p.Arg320His, XP_047295380.1:p.Arg320His, XP_047295381.1:p.Arg320His, XP_047295377.1:p.Arg320His, XP_047295378.1:p.Arg320His, XP_047295383.1:p.Arg320His, XP_047295382.1:p.Arg320His, XP_047295379.1:p.Arg320His, XP_047295384.1:p.Arg320His, XP_047295385.1:p.Arg320His

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